| 1. |
- Lundin, Karin E, et al.
(författare)
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Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene
- 2015
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Ingår i: Clinical Immunology. - : Elsevier. - 1521-6616 .- 1521-7035. ; 161:2, s. 366-372
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Tidskriftsartikel (refereegranskat)abstract
- Phosphoglucomutase 3 (PGM3) is an enzyme converting N-acetyl-glucosamine-6-phosphate to N-acetylglucosamine-l-phosphate, a precursor important for glycosylation. Mutations in the PGM3 gene have recently been identified as the cause of novel primary immunodeficiency with a hyper-IgE like syndrome. Here we report the occurrence of a homozygous mutation in the PGM3 gene in a family with immunodeficient children, described already in 1976. DNA from two of the immunodeficient siblings was sequenced and shown to encode the same homozygous missense mutation, causing a destabilized protein with reduced enzymatic capacity. Affected individuals were highly prone to infections, but lack the developmental defects in the nervous and skeletal systems, reported in other families. Moreover, normal IgE levels were found. Thus, belonging to the expanding group of congenital glycosylation defects, PGM3 deficiency is characterized by immunodeficiency, with or without increased IgE levels, and with variable forms of developmental defects affecting other organ systems.
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| 2. |
- Norlin, Anna-Karin, et al.
(författare)
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Cortisol levels in hair are altered in irritable bowel syndrome - A case control study in primary care.
- 2017
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Ingår i: Journal of Psychosomatic Research. - : Elsevier BV. - 0022-3999 .- 1879-1360. ; 93, s. 69-75
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Stress is an important component in the pathophysiology of irritable bowel syndrome (IBS). Long term Hypothalamus Pituitary Adrenal (HPA)-axis activity can be studied by measuring hair cortisol concentrations (HCC). Some previous studies have indicated a dysregulated HPA-axis in IBS patients, but cortisol levels in hair have not yet been studied. We investigated whether HCC and self-reported stress differentiate IBS patients from controls.METHODS: In a cross-sectional study within 10 Swedish Primary Health Care Centers we compared patients in working age with active IBS to patients without GI complaints. The participants donated hair samples and completed questionnaires including a scale of self-reported perceived stress (PSS). 169 Rome III-fulfilling IBS patients and 316 non-IBS patients were available for final analyses.RESULTS: IBS patients had significantly lower HCC, median=16.3pg/mg, IQR=26.9pg/mg, compared to non-IBS patients, median=22.8pg/mg, IQR=29.1pg/mg. There was also a difference in the distribution of HCC quintiles between the two groups, with 30.2% IBS patients and 14.2% of non-IBS patients in the lowest quintile of HCC. PSS was higher among IBS patients with a mean (SD) total score of 25.3 (8.0) compared to controls 21.4, (7.5). Quintiles of HCC and PSS stayed significantly but very weakly related to IBS (B=-0.332, Std error=0.146, p<0.005) in multivariable analyses.CONCLUSION: This study suggests a possible suppression of the HPA-axis activity in a considerable portion of IBS patients.
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| 3. |
- Norlin, Anna-Karin, et al.
(författare)
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Primary healthcare utilisation and self-rated health among patients with Irritable Bowel Syndrome: What are the impacts of comorbidities, gastrointestinal symptom burden, sense of coherence and stress?
- 2019
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Ingår i: Journal of Psychosomatic Research. - : PERGAMON-ELSEVIER SCIENCE LTD. - 0022-3999 .- 1879-1360. ; 119
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Irritable Bowel Syndrome (IBS) is a chronic gastrointestinal disease associated with impaired quality of life and an increased use of healthcare services. Self-ratings of health have proven a powerful predictor of health outcomes. The aim of this study was to evaluate the unique impacts of comorbidities, gastrointestinal symptoms, perceived stress and sense of coherence on the number of healthcare contacts and self-rated health of IBS patients in Swedish primary care. Methods: In this cross-sectional study, 186 primary-care IBS patients and 360 non-IBS patients (as a reference group) were administrated a test battery of validated questionnaires. Data on comorbidities and healthcare-seeking frequency were obtained from a registry. Results: In the reduced multivariable logistic regression model, average days of abdominal pain/week (OR = 0.83, 95% CI = 0.72-0.96), age (OR = 0.95, 95% CI = 0.92-0.97) and sense of coherence (OR = 1.07, 95% CI = 1.03-1.11) remained independent, statistically significant predictors of IBS (and non-IBS) patients reporting good health. Only the number of comorbidities in general (OR = 1.22, 95% CI = 1.14-1.32) and sleep disorders in particular (OR = 5.40, 95% CI = 1.85-15.76) independently predicted high levels of primary healthcare utilisation among IBS patients. Conclusion: Lack of gastrointestinal symptoms, a high sense of coherence and younger age were associated with better self-rated health in both IBS and non-IBS patients. The number of comorbidities in general and sleep disorders in particular were associated with frequent PHC contacts in IBS patients. The association between frequent primary-care contacts and sleep disorders was not seen in the control group, indicating a unique association with IBS patients.
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| 4. |
- Olsen Faresjö, Åshild, et al.
(författare)
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Gastrointestinal symptoms - an illness burden that affects daily work in patients with IBS
- 2019
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Ingår i: Health and Quality of Life Outcomes. - : BMC. - 1477-7525. ; 17
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundIrritable Bowel Syndrome (IBS) is a chronic gastrointestinal disorder characterised by recurrent abdominal pain and disturbed bowel habits and unclear aetiology. IBS is also associated with psychosocial factors, impaired quality of life and lost work productivity. This study sought to determine whether the association between IBS and lost work productivity might be accounted for by poor coping strategies and loss of confidence in the healthcare system.MethodsCase-control design was employed sampling IBS and non-gastrointestinal (non-GI) primary healthcare seekers in a defined region in Sweden. Non-GI patients were of similar age and sex distribution to the IBS patients. Questionnaires applied in this study included instruments designed to measure confidence in the social security system and in the community, as well as questions about whether gastrointestinal problems might affect working life and Sense of coherence (SOC) questionnaire. The studys primary hypothesis was evaluated via an a priori path model.ResultsStatistically significant differences were found between IBS cases (n=305) and controls (n=369) concerning abdominal pain or discomfort affecting everyday performance at work (pamp;lt;0.0001). IBS cases also showed significantly lower (p=0.001) confidence in public healthcare. The studys hypothesis was supported with the finding of a statistically significant indirect association via poor coping strategies, although the indirect associations were lesser in magnitude than the direct association.ConclusionsThis study found a clear association between clinically diagnosed IBS status and interference in work by gastrointestinal symptoms in which sense of coherence might be of importance.
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| 5. |
- Törne, Karin, et al.
(författare)
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Degradation of zinc in saline solutions, plasma, and whole blood
- 2016
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Ingår i: Journal of Biomedical Materials Research. Part B - Applied biomaterials. - : John Wiley & Sons. - 1552-4973 .- 1552-4981. ; 104:6, s. 1141-1151
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Tidskriftsartikel (refereegranskat)abstract
- The initial degradation of zinc has been investigated through exposures to simulated and real body fluids of increasing complexity: phosphate buffered saline (PBS), Ringer's saline solution, human plasma, and whole blood. Real body fluids were used to close the electrolyte gap between simulated and in vivo environment. Polarization of zinc in whole blood show a passive response not present in other electrolytes. The analysis shows a decrease in corrosion rate with time for plasma and whole blood and an increase for PBS and Ringer's. During exposure to plasma and whole blood a bi-layered corrosion product with poor adherence was formed over a uniformly corroding surface. The corrosion products comprise a mixture of inorganic material and biomolecules. Samples degrading in PBS were prone to localized corrosion and formed thick porous corrosion products of primarily zinc phosphates while in Ringer's solution a gel like layer of zinc carbonate was formed over an interface with shallow pits. The use of whole blood or plasma as electrolytes for short term in vitro evaluation of potential biodegradable metals may provide an improved understanding of the behavior in vivo, while Ringer's solution is preferred over PBS for long term degradation studies of zinc.
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